Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center. Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endocrinological findings were retrospectively collected, including presenting features, external genitalia, sex of rearing, timing of gonadectomy, pubertal outcomes, and sex hormone levels. Molecular analysis of AR was performed using Sanger, targeted gene panel, or whole-exome sequencing. Results: Among all 19 patients, 14 (74%) were classified as having complete AIS (CAIS), whereas 5 (26%) had partial AIS (PAIS). All patients with CAIS, and 3 patients with PAIS were reared as female. One patient with CAIS manifested a mixed germ cell tumor at the age of 30 years. Molecular analysis of AR identified 19 sequence variants; 12 (63%) were previously reported, and the remaining 7 (37%) were novel. Missense mutations were the most common type (12 of 19, 63%), followed by small deletions, nonsense mutations, an insertion, and a splice site mutation. Conclusion Here, we describe the clinical outcomes and molecular characteristics of 19 Korean patients with AIS. Patients with PAIS manifested various degrees of masculinization of the external genitalia. Nonsense and frameshift mutations were frequent in patients with CAIS, whereas patients with PAIS harbored exclusively missense mutations.

Human Q fever, a zoonosis caused by Coxiella burnetii, presents with diverse clinical manifestations ranging from mild self-limited febrile illnesses to life-threatening complications such as endocarditis or vascular infection. Although acute Q fever is a benign illness with a low mortality rate, a large-scale outbreak of Q fever in the Netherlands led to concerns about the possibility of blood transfusion-related transmission or obstetric complications in pregnant women. Furthermore, a small minority (< 5%) of patients with asymptomatic or symptomatic infection progress to chronic Q fever. Chronic Q fever is fatal in 5–50% of patients if left untreated. In South Korea, Q fever in humans was designated as a notifiable infectious disease in 2006, and the number of Q fever cases has increased sharply since 2015. Nonetheless, it is still considered a neglected and under-recognized infectious disease. In this review, recent trends of human and animal Q fever in South Korea, and public health concerns regarding Q fever outbreaks are reviewed, and we consider how a One Health approach could be applied as a preventive measure to prepare for zoonotic Q fever outbreaks.

Objective: To investigate the association between genetic polymorphisms of brain-derived neurotrophic factor (BDNF) or serotonin transporter gene-linked polymorphic region (5-HTTLPR) and tinnitus, and the mediating effects of psychological distress on this association. Methods: Eighty-six patients experiencing tinnitus and 252 controls were recruited. The Tinnitus Handicap Inventory was used to assess the severity of tinnitus and the Beck Depression Inventory-II (BDI-II), Beck Anxiety Inventory-II (BAI-II), and the Korean version of the Brief Encounter Psychosocial Instrument (BEPSI-K) were used to assess psychological distress. We compared the association of BDNF rs6265 (Val66Met) and 5-HTTLPR variants in the two groups. The mediating effects of BDI-II, BAI-II, and BEPSI-K were examined using multiple regression analysis and validated by the Sobel test and bootstrapping. Results: No significant differences were found between the groups regarding BDNF Val66Met and 5-HTTLPR, but the 5-HTTLPR variants trended toward association. Depressive symptoms appeared to act as a mediator on the relationship within the 5-HTTLPR s/s genotype and the severity of tinnitus. Conclusion Our findings provide a speculative idea on the association between the serotonergic system and tinnitus and suggest that depressive symptoms act as a mediator in tinnitus. Therefore, screening for depressive symptoms in patients with tinnitus is essential and intervention for depressive symptoms may help alleviate the severity of tinnitus.

Objective: To investigate the association between genetic polymorphisms of brain-derived neurotrophic factor (BDNF) or serotonin transporter gene-linked polymorphic region (5-HTTLPR) and tinnitus, and the mediating effects of psychological distress on this association. Methods: Eighty-six patients experiencing tinnitus and 252 controls were recruited. The Tinnitus Handicap Inventory was used to assess the severity of tinnitus and the Beck Depression Inventory-II (BDI-II), Beck Anxiety Inventory-II (BAI-II), and the Korean version of the Brief Encounter Psychosocial Instrument (BEPSI-K) were used to assess psychological distress. We compared the association of BDNF rs6265 (Val66Met) and 5-HTTLPR variants in the two groups. The mediating effects of BDI-II, BAI-II, and BEPSI-K were examined using multiple regression analysis and validated by the Sobel test and bootstrapping. Results: No significant differences were found between the groups regarding BDNF Val66Met and 5-HTTLPR, but the 5-HTTLPR variants trended toward association. Depressive symptoms appeared to act as a mediator on the relationship within the 5-HTTLPR s/s genotype and the severity of tinnitus. Conclusion Our findings provide a speculative idea on the association between the serotonergic system and tinnitus and suggest that depressive symptoms act as a mediator in tinnitus. Therefore, screening for depressive symptoms in patients with tinnitus is essential and intervention for depressive symptoms may help alleviate the severity of tinnitus.

Subtotal petrosectomy (STP) is an effective treatment modality for recurrent suppurative otitis media (CSOM) and cochlear implant (CI) may be combined for auditory rehabilitation. An active transcutaneous bone conduction implantation system, known as BonebridgeTM (BB) (MED-EL), is indicated for conductive or mixed hearing loss as well as for single-side deafness, but no cases of BB implantation during STP have been reported. A 37-year-old woman who had previously undergone radical mastoidectomy visited our clinic. The left side was deaf and the CT scan showed total ossification of the cochlea, indicating that CI was not possible. STP was performed and bone conduction-floating mass transducer was placed at a sinodural angle. A month later, the sound processor was applied successfully without any complications. This case suggests that BB implantation during STP may be another effective therapeutic option for CSOM patients who have difficulty undergoing CI procedure.

Background: Early neurological deterioration is a critical determinant of functional outcome in patients with acute minor ischemic stroke. This study aimed to identify clinical predictors of early neurological deterioration in patients with acute minor ischemic stroke. Methods: A total of 739 patients who experienced acute minor ischemic stroke symptoms between January 2014 and December 2018 were enrolled in this study. All patients were presented within a 4.5-hour time window of stroke symptom onset. Early neurological deterioration was defined as an increment of at least one point in motor power or total National Institute of Health Stroke Scale (NIHSS) score deterioration ≥ 2 points within 3 days after admission. Unfavorable functional outcome was defined as a modified Rankin Scale score of ≥ 2 at 90 days after stroke onset. Demographic characteristics, risk factors for vascular diseases, stroke severity, stroke subtypes, and neuroimaging parameters were analyzed. Regression analysis was used to determine clinical predictors of early neurological deterioration. Results: Of the 739 patients, 78 (10.5%) patients had early neurological deterioration. Among the 78 patients with early neurological deterioration, 61 (78.2%) had unfavorable functional outcome at 90 days after stroke onset. In contrast, 131 of the remaining 661 (19.8%) patients without early neurological deterioration had unfavorable functional outcome. Multivariate analysis identified hemorrhagic transformation (odds ratio, 3.8; 95% confidence interval, 1.4-10.5; P = 0.010), higher NIHSS score at admission (odds ratio, 1.4; 95% confidence interval, 1.1-1.7; P = 0.003), arterial stenosis (odds ratio, 2.0; 95% confidence interval, 1.2-3.5; P = 0.014) and occlusion (odds ratio, 2.6; 95% confidence interval, 1.4-4.8; P = 0.004) in the territory of stroke as significant predictors of early neurological deterioration. Conclusions: The results of this study suggest that hemorrhagic transformation, higher NIHSS score at admission, and arterial steno-occlusive lesions in the territory of stroke are independent predictors of early neurological deterioration in patients with acute minor ischemic stroke.

OBJECTIVE: This study evaluated gender differences in the relationship between psychiatric distress and subjective tinnitus severity. METHODS: This cross-sectional study included 134 female and 114 male patients who visited the otology outpatient clinic at Seoul St. Mary’s Hospital for tinnitus from February to July 2015. Patients completed a series of instruments, including the Tinnitus Handicap Inventory, Beck Depression Inventory, Korean version of Brief Encounter Psychosocial Instrument (BEPSI-K), and visual analogue scales assessing various tinnitus characteristics (loudness, awareness, annoyance, and effect on life). RESULTS: Tinnitus severity did not significantly differ between the gender groups (p=0.632), and it correlated significantly with tinnitus characteristics and psychiatric distress. Partial correlations between tinnitus severity and depressive symptoms were stronger in males (r=0.411, p<0.01) than in females (r=0.304, p<0.01) while controlling for duration of tinnitus and tinnitus characteristics. However, stress (BEPSI-K) was positively correlated with tinnitus severity in only males (r=0.463, p<0.01). A multiple regression analysis revealed that effect of tinnitus on life, depressive symptoms, and stress were significantly associated with tinnitus severity in males, whereas only tinnitus annoyance and depressive symptoms were associated with tinnitus severity in females. CONCLUSION: Tinnitus severity was significantly correlated with depressive symptoms and stress, and there were gender differences in the relationship between tinnitus severity and psychiatric components. It is necessary to be vigilant of psychiatric symptoms among patients with tinnitus who visit the otology outpatient clinic, especially for male patients.
Ambulatory Care Facilities ; Cross-Sectional Studies ; Depression ; Female ; Humans ; Male ; Otolaryngology ; Seoul ; Stress, Psychological ; Tinnitus ; Weights and Measures

The hematogenous spreading of an infectious pathogen via the portal vein from a mucosal injury in the gastrointestinal tract has been considered as one of the pathologic mechanisms of pyogenic liver abscess. Several studies have presented the association between colorectal cancer and pyogenic liver abscess. However, the cases of stomach cancer concomitant with pyogenic liver abscess have rarely been reported in the world. Herein, we present a case of advanced gastric cancer concomitant with pyogenic liver abscess in a patient who previously underwent subtotal gastrectomy due to peptic ulcer perforation.
Colorectal Neoplasms ; Gastrectomy* ; Gastrointestinal Tract ; Humans ; Liver Abscess, Pyogenic* ; Peptic Ulcer Perforation ; Portal Vein ; Stomach Neoplasms*

BACKGROUND/AIMS: There are few available data regarding the association between the single nucleotide polymorphisms (SNPs) of the gene encoding interleukin 28B (IL28B) and a sustained virologic response (SVR) to peginterferon (PEG-IFN) plus ribavirin (RBV) therapy in Korean chronic hepatitis C patients. METHODS: This was a retrospective cohort study of 156 patients with chronic hepatitis C virus (HCV) infection who received combination treatment of PEG-IFN plus RBV. Blood samples from these patients were analyzed to identify the IL28B SNPs at rs12979860, rs12980275, rs8099917, and rs8103142. Association analyses were performed to evaluate the relationships between each IL28B SNP and SVRs. RESULTS: Seventy six patients with HCV genotype 1 and 80 with genotype non-1 were enrolled. The frequencies of rs12979860 CC and CT genotypes were 90.4% and 9.6%, respectively; those of rs12980275 AA and AG genotypes were 87.2% and 12.8%, respectively; those of rs8099917 TT and TG genotypes were 92.3% and 7.7%, respectively; and those of rs8103142 TT and CT genotypes were 90.4% and 9.6%, respectively. Among the patients with HCV genotype 1, the SVR rates were 69.7% and 80.0% for rs12979860 CC and CT, respectively (P=0.71). Among the HCV genotype non-1 patients, SVR rates were 88.0% and 100% for rs12979860 CC and CT (P=1.00), respectively. CONCLUSIONS: Genotypes of the IL28B SNP that are known to be favorable were present in most of the Korean patients with chronic hepatitis C in this study. Moreover, the IL28B SNP did not influence the SVR rate in either the HCV genotype 1 or non-1 patients. Therefore, IL28B SNP analysis might be not useful for the initial assessment, prediction of treatment outcomes, or treatment decision-making of Korean chronic hepatitis C patients.
Adult ; Alleles ; Antiviral Agents/*therapeutic use ; Asian Continental Ancestry Group/*genetics ; Cohort Studies ; Drug Therapy, Combination ; Female ; Gene Frequency ; Genotype ; Hepatitis C, Chronic/drug therapy/*genetics ; Humans ; Interferon-alpha/therapeutic use ; Interleukins/*genetics ; Linkage Disequilibrium ; Male ; Middle Aged ; Polyethylene Glycols/therapeutic use ; *Polymorphism, Single Nucleotide ; Recombinant Proteins/therapeutic use ; Republic of Korea ; Retrospective Studies ; Ribavirin/therapeutic use

BACKGROUND/AIMS: Identifying the impact of a patient's ethnicity on treatment responses in clinical practice may assist in providing individualized treatment regimens for chronic hepatitis C (CHC). The effectiveness of standard peginterferon plus ribavirin therapy and the need for triple combination therapy with protease inhibitors in Koreans remain matters of debate. These issues were investigated in the present study. METHODS: The clinical data of 272 treatment-naive Korean CHC patients who were treated in a community-based clinical trial (Clinical Trial group; n=51) and in clinical practice (Cohort group; n=221), were analyzed and compared. All were treated with standard protocols of peginterferon alfa-2a plus ribavirin therapy. RESULTS: For patients with hepatitis C virus (HCV) genotype 1, the sustained virological response (SVR) rates in the Clinical Trial and Cohort groups were 81% (21/26) and 55% (58/106), respectively, by intention-to-treat (ITT) analysis (P=0.02), and 100% (13/13) and 80% (32/40), respectively, in treatment-adherent patients (P=0.18). For patients with HCV genotype 2, the SVR rates in these two groups were 96% (24/25) and 88% (101/115), respectively, by ITT analysis (P=0.31). Adherence and treatment duration were independent predictors of SVR for genotypes 1 and 2, respectively (P<0.01 for each). Korean patients with CHC achieved high SVR rates with peginterferon alfa-2a plus ribavirin in both the clinical trial and clinical practice settings. CONCLUSIONS: Measures to raise adherence to standard therapy in clinical practice may improve the SVR rates in these patients as effectively as adding protease inhibitors, thus obviating the need for the latter.
Adolescent ; Adult ; Aged ; Antiviral Agents/*therapeutic use ; Asian Continental Ancestry Group ; Cohort Studies ; Drug Therapy, Combination ; Female ; Genotype ; Hepacivirus/genetics ; Hepatitis C, Chronic/*drug therapy ; Humans ; Interferon-alpha/*therapeutic use ; Male ; Middle Aged ; Odds Ratio ; Polyethylene Glycols/*therapeutic use ; Predictive Value of Tests ; RNA, Viral/genetics ; Recombinant Proteins/therapeutic use ; Republic of Korea ; Ribavirin/*therapeutic use ; Treatment Outcome ; Young Adult